Target Copy Number Variation Details
- DGV Version
- Release date: 2016-05-15, GRCh GRCh38
Target Variation ID |
Location |
CNV Subtype |
Genes |
nsv519472 |
Chr22:26458475 - 26463976 on Build GRCh38 |
Loss |
HPS4
|
Product Details
- Assay Reference Genome
Location
Chr.22:26459967 on build GRCh38
- Cytoband
- 22q12.1
- Species
- Homo sapiens
- Variation Type
- Copy Number
Additional Information
Target Gene Details
- Entrez Gene ID
- 89781
- Gene Symbol
- HPS4
- Gene Name
- HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
- Gene Aliases
- BLOC3S2, LE
- Location
- Chr.22:26443613-26483863 on build GRCh38
- Assay Gene Location
- Within Intron 14
Target Copy Number Variation Details
- DGV Version
- Release date: 2016-05-15, GRCh GRCh38
Target Variation |
Location |
CNV Subtype |
Genes |
nsv519472 |
Chr22:26458475 - 26463976 on Build GRCh38 |
Loss |
HPS4
|
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